Spina Bifida-Hypospadias Syndrome |
|
Hypospadias, Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Spina bifida, Renal hypoplasia/aplasia, Cryptorc... |
ORPHA:1756 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, External genital hypoplasia, Cryptorchidism, Rectal atresia, Stage... |
OMIM:613390 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Renal agenesis, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeni... |
ORPHA:83628 |
Schisis Association |
|
Encephalocele, Renal agenesis, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate... |
ORPHA:63862 |
Sirenomelia |
|
Spina bifida, Renal hypoplasia/aplasia, Tracheoesophageal fistula, Sirenomelia, Abnormality of th... |
ORPHA:3169 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Ectopic anus, Spina bifida, Cleft palate |
ORPHA:2476 |
Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Intestinal malrotation, Spina bifida, Ectopic kidney, Renal hyp... |
ORPHA:93929 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... |
OMIM:617805 |
Acalvaria |
|
Hydrocephalus, Spina bifida, Holoprosencephaly, Cleft palate |
ORPHA:945 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida, Renal hypoplasia/aplasia, Cleft palate, Ectopic anus, Anal atresia |
ORPHA:2345 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Aganglionic megacolon, Hydronephrosis, Anal atresia |
OMIM:235760 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Hydronephrosis, Abnormality of the urinary system, Bifid uvula |
ORPHA:2669 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Macdermot-Winter Syndrome |
|
Death in infancy, Hydronephrosis, Hypoplastic male external genitalia |
OMIM:247990 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Czeizel-Losonci Syndrome |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Tracheoesophageal fistula, Ureteral agenesis, Cong... |
ORPHA:2437 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
Cat-Eye Syndrome |
|
Abnormal localization of kidney, Hydronephrosis, Anal atresia, Renal hypoplasia/aplasia |
ORPHA:195 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dysraphism, Sirenomelia, Anal atresia |
ORPHA:63260 |
Oeis Complex |
|
Epispadias, Ambiguous genitalia, female, Anteriorly placed anus, Ambiguous genitalia, male, Dupli... |
OMIM:258040 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, R... |
ORPHA:2973 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia, Dysphagia |
OMIM:207950 |
Diabetic Embryopathy |
|
Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Hydrocephalus, Cleft palate, Spin... |
ORPHA:1926 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... |
ORPHA:322 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Hydrocephalus, Anorectal anomaly, Abnormality of the ureter, Tracheoeso... |
ORPHA:1834 |
Acropectorovertebral Dysplasia |
|
High, narrow palate, Spina bifida, Cleft palate |
ORPHA:957 |
Bladder Exstrophy |
|
Hypoplasia of penis, Recurrent urinary tract infections, Intestinal malrotation, Epispadias, Abno... |
ORPHA:93930 |
Anus, Imperforate |
|
Ectopic anus, Hypospadias, Anal atresia |
OMIM:301800 |
Vacterl/Vater Association |
|
Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hyposp... |
ORPHA:887 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Abnormality of the upp... |
ORPHA:873 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Urethral atresia, Neonatal death, E... |
OMIM:314390 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Image Syndrome |
|
Hypogonadism, Cryptorchidism, Hypospadias, Hydronephrosis |
ORPHA:85173 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Megacystis, Hydronephrosis, Fetal megacystis, Neonatal death, Microcolon |
OMIM:619362 |
Pelvis-Shoulder Dysplasia |
|
Ambiguous genitalia, Spina bifida, Hydrocephalus, Cleft palate, Hydranencephaly, Microglossia, Hy... |
ORPHA:2839 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Intestinal malrotation, Spina bifida, Cryptorchidism, Cleft... |
ORPHA:99776 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Iniencephaly |
|
Encephalocele, Renal agenesis, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal... |
ORPHA:63259 |
Vacterl With Hydrocephalus |
|
Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Aqueductal stenosis, Esophageal atresia, ... |
ORPHA:3412 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Spina bifida, Cryptorchidism, Abnormality of the ureter, ... |
ORPHA:261318 |
Congenital Myopathy 19 |
|
Cryptorchidism, Renal atrophy, High palate, Dysphagia, Hydronephrosis |
OMIM:618578 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Death in infancy, Multicystic kidney dysplasia, Hydrou... |
ORPHA:2241 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Spina bifida, Myelomeningocele, Meningocele, Clef... |
ORPHA:1393 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc... |
OMIM:236730 |
Aplasia Cutis Congenita |
|
Spinal dysraphism |
ORPHA:1114 |
Amish Lethal Microcephaly |
|
Death in infancy, Organic aciduria, Cleft soft palate, Spina bifida |
ORPHA:99742 |
Anophthalmia Plus Syndrome |
|
Spina bifida, Cleft palate, Bilateral cleft lip and palate |
ORPHA:1104 |
Prune Belly Syndrome |
|
Hydroureter, Cryptorchidism, Xerostomia, Congenital posterior urethral valve, Hydronephrosis, Ana... |
OMIM:100100 |
46,Xy Sex Reversal 4 |
|
Renal dysplasia, Hypergonadotropic hypogonadism, Agonadism, Cleft palate, Sex reversal, Hypoplasi... |
OMIM:154230 |
Pagod Syndrome |
|
Encephalocele, Death in infancy, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/apl... |
ORPHA:991 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, External genital hypoplasia, Renal hypoplasia, Hypogonadism, Hydronephrosis |
OMIM:615996 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
High palate, Spina bifida |
ORPHA:1327 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida, Aganglionic megacolon, Cleft palate |
ORPHA:894 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Congenital shortened sma... |
OMIM:300048 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus, Hydronephrosis |
ORPHA:251046 |
X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, High palate, Hydronephrosis |
ORPHA:85285 |
Cat Eye Syndrome |
|
Anal stenosis, Renal agenesis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft pala... |
OMIM:115470 |
Johanson-Blizzard Syndrome |
|
Death in infancy, Hypoplasia of penis, Hypospadias, Malabsorption, Abnormal vagina morphology, An... |
ORPHA:2315 |
Vater/Vacterl Association |
|
Renal dysplasia, Occipital encephalocele, Tethered cord, Hypospadias, Renal agenesis, Spina bifid... |
OMIM:192350 |
Trisomy 18 |
|
Spina bifida, Abnormality of the upper urinary tract, Esophageal atresia, Cryptorchidism, Anencep... |
ORPHA:3380 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Hydronephrosis |
OMIM:617127 |
Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Hydrocephalus, Cleft palate, Hydronephrosis, Anal atresia |
OMIM:220210 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Myelomeningocele, Tethered cord, Hydronephrosis |
OMIM:620141 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Cryptorchidism, Spina bifida occulta, Hydronephrosis |
OMIM:618060 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Intestinal malrotation, Microcolon, Megacystis, Hydronephrosis |
OMIM:619431 |
Bor Syndrome |
|
Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Clef... |
ORPHA:107 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Hydroureter, Hydronephrosis |
OMIM:618240 |
3C Syndrome |
|
Death in infancy, Hypoplasia of penis, Hypospadias, Intestinal malrotation, High, narrow palate, ... |
ORPHA:7 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Rectal fistula, Cryptorchidism, Fetal pyelectasis, Anorectal... |
ORPHA:49 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop... |
ORPHA:2198 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Hydrocephalus, Cleft palate, Congeni... |
ORPHA:261344 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, Spinal dysraphism, Holopros... |
ORPHA:1908 |
Ochoa Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Cryptorchidism, Ur... |
ORPHA:2704 |
Williams-Beuren Region Duplication Syndrome |
|
Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, High palate, Hydronephrosis |
OMIM:609757 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Renal hypoplasia/aplasia... |
ORPHA:2473 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Unilateral renal agenesis, High, narrow palate, Cryptorchidism, Renal hypoplasia, Cleft palate, A... |
OMIM:618494 |
Fanconi Anemia |
|
High palate, Abnormality of the uterus, Hypospadias, Spina bifida, Aplasia/Hypoplasia of the uvul... |
ORPHA:84 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida, Precocious puberty, Cryptorchidism, Renal transitional cell carcinoma, Unilateral r... |
ORPHA:2874 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Tethered cord, Submucous cleft hard palate, Renal hypoplasia, Spinal dysraphism, Vesicoureteral r... |
OMIM:617660 |
Tetrasomy 15Q26 |
|
Hydrocephalus, Horseshoe kidney, Syringomyelia, High palate, Hydronephrosis |
OMIM:614846 |
Distal Triplication 15Q |
|
Abnormal external genitalia, Abnormality of the kidney, Hydrocephalus, Dilatation of the renal pe... |
ORPHA:314588 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Aganglionic megacolon, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, ... |
OMIM:236700 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Neurogenic bladder, Tethered cord, Myelomeningocele, Meningocele, Hydrocephalus, De... |
OMIM:600145 |
Jacobsen Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Intestinal malrotation, Spina bifida, Pyloric ste... |
ORPHA:2308 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Spina bifida |
ORPHA:1120 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Renal hypoplasia, Stillbirth, Anal atresia |
OMIM:276950 |
Radial Aplasia, X-Linked |
|
Hydrocephalus, Penile hypospadias, Anal atresia |
OMIM:312190 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Septate vagina, Bicornuate uterus, Rectovaginal fistula, ... |
OMIM:300707 |
Fountain Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
8P23.1 Duplication Syndrome |
|
Hydronephrosis |
ORPHA:251076 |
Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Megacystis, Hydronephrosis, Urinary retenti... |
OMIM:155310 |
9Q21.13 Microdeletion Syndrome |
|
Cryptorchidism, Gastrointestinal dysmotility, Abnormal tongue morphology, Syringomyelia, Hydronep... |
ORPHA:531151 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Aganglionic megacolon, Intestinal malrotation, Hypospadias, Cryptor... |
ORPHA:2059 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Horseshoe kidney, Gastroeso... |
ORPHA:2092 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Precocious puberty, Cr... |
OMIM:146510 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Spina bifida, Cleft palate, Hematuria, Neph... |
OMIM:161200 |
Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Hydrocephalus, Bilateral renal hypoplasia, Cleft palate,... |
OMIM:243605 |
Split Cord Malformation |
|
Neurogenic bladder, Tethered cord, Hypospadias, Urinary incontinence, Detrusor sphincter dyssyner... |
ORPHA:573278 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cryptorchidism, Hydronephrosis |
OMIM:619797 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Hydrocephalus, Urethral stenosis, Cleft palate, Macroglossia... |
ORPHA:261290 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Anal stenosis, Aganglionic megacolon, Renal agenesis, Renal hypoplasia, Horses... |
OMIM:607323 |
Pfeiffer Syndrome Type 3 |
|
Intestinal malrotation, Aqueductal stenosis, Cleft palate, Horseshoe kidney, High palate, Vesicou... |
ORPHA:93260 |
46,Xy Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... |
ORPHA:325345 |
Endove Syndrome, Limb-Only Type |
|
Hypoplastic labia majora, Umbilical hernia, Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
Joubert Syndrome 37 |
|
Decreased testicular size, Cryptorchidism, High palate, Micropenis, Hydronephrosis |
OMIM:619185 |
Zellweger Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Hypospadias, Malabsorption, Pyloric stenosis, Cry... |
ORPHA:912 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate, Renal cyst |
OMIM:603194 |
Thrombocytopenia-Absent Radius Syndrome |
|
Death in infancy, Ureteral duplication, Renal malrotation, Spina bifida, Dilatation of the renal ... |
OMIM:274000 |
Chromosome 17P13.1 Deletion Syndrome |
|
Spina bifida, High, narrow palate, Hydrocephalus, Hydrocele testis, High palate, Umbilical hernia |
OMIM:613776 |
Trisomy 13 |
|
High, narrow palate, Cryptorchidism, Abnormality of the ureter, Cleft palate, Multiple renal cyst... |
ORPHA:3378 |
Limb Body Wall Complex |
|
Encephalocele, Abnormality of the kidney, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... |
ORPHA:2369 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv... |
ORPHA:210122 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Death in infancy, Hypoplasia of penis, Ambiguous genitalia, Aganglionic megacolon, Abnormality of... |
ORPHA:847 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Renal duplication, Urinary bladder inflammation, Congenital pyloric atresia, ... |
ORPHA:79403 |
Endove Syndrome, Limb-Brain Type |
|
Hydronephrosis, Umbilical hernia, Neurogenic bladder, Recurrent urinary tract infections |
OMIM:619218 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Jejunal atresia, Abnormality of the kidney, Esophageal atre... |
ORPHA:391641 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Cryptorchidism, Rectal prolapse, Narrow palate, Horseshoe kidney, Protein-losing ... |
OMIM:235510 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
High palate, Hydronephrosis, Cleft palate |
OMIM:602418 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Tracheoesophageal fistula, Rectovaginal fistula, Hydronephrosis, Ana... |
ORPHA:1780 |
Neu-Laxova Syndrome |
|
External genital hypoplasia, Spina bifida, Submucous cleft hard palate, Cleft palate, Hypogonadis... |
ORPHA:2671 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectop... |
OMIM:617466 |
Non-Syndromic Posterior Hypospadias |
|
Bifid scrotum, Esophageal atresia, Cryptorchidism, Ventral shortening of foreskin, Cleft palate, ... |
ORPHA:95706 |
Duplication Of Urethra |
|
Bifid scrotum, Urethral stricture, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia... |
ORPHA:237 |
Neu-Laxova Syndrome 2 |
|
Spina bifida, High palate, Cleft palate |
OMIM:616038 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Aganglionic megacolon, Intestinal malrotation, Spina bifida, Hypospa... |
ORPHA:567 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... |
ORPHA:3467 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
Tetraploidy |
|
Hydronephrosis, Cleft palate, Renal hypoplasia/aplasia |
ORPHA:3305 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Nephroblastoma, Tethered cord, Renal hypoplasia, Spinal dysraphism |
OMIM:612918 |
Recombinant Chromosome 8 Syndrome |
|
Cryptorchidism, Hydronephrosis |
OMIM:179613 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Anal stenosis, Ureteral hypoplasia, Bladder trabeculation,... |
OMIM:614080 |
Mesomelia-Synostoses Syndrome |
|
Aplasia/Hypoplasia of the uvula, High, narrow palate, Umbilical hernia, Hydronephrosis |
ORPHA:2496 |
Carpenter Syndrome 1 |
|
Hydroureter, External genital hypoplasia, Precocious puberty, Cryptorchidism, High palate, Umbili... |
OMIM:201000 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Unilateral renal agenesis, Anal atresia, Persistent cloaca |
OMIM:615709 |
Baller-Gerold Syndrome |
|
Malabsorption, Abnormality of the ureter, Cleft palate, Abnormal localization of kidney, Anterior... |
ORPHA:1225 |
Tarp Syndrome |
|
Cleft palate, Tongue nodules, Horseshoe kidney, Glossoptosis, High palate, Neonatal death, Meckel... |
OMIM:311900 |
46,Xx Sex Reversal 4 |
|
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... |
OMIM:617480 |
Suleiman-El-Hattab Syndrome |
|
Cryptorchidism, High palate, Hydronephrosis |
OMIM:618950 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hypospadias, Cryptorchidism, Megarectum, Vesicoureteral reflux, Mic... |
OMIM:301056 |
Netherton Syndrome |
|
Aminoaciduria, Ectopic kidney, Hydronephrosis, Malabsorption |
ORPHA:634 |
Marden-Walker Syndrome |
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Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis, Cleft palate |
OMIM:618265 |
Koolen-De Vries Syndrome |
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Ureteral duplication, Hypospadias, High, narrow palate, Pyloric stenosis, Cryptorchidism, Narrow ... |
ORPHA:96169 |
Fryns Syndrome |
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Bifid scrotum, Ureteral duplication, Aganglionic megacolon, Intestinal malrotation, Hypospadias, ... |
OMIM:229850 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
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Intestinal malrotation, Cryptorchidism, Cleft palate, Gastroesophageal reflux, Hydronephrosis |
ORPHA:457193 |
Xanthinuria, Type I |
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Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis |
OMIM:278300 |
22Q11.2 Duplication Syndrome |
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Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis, Cleft palate |
ORPHA:1727 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
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Cryptorchidism, Hypoplasia of penis, Small scrotum, Hydronephrosis |
ORPHA:2083 |
Brain Malformations With Or Without Urinary Tract Defects |
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Vesicoureteral reflux, Syringomyelia, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
Distal Duplication 6P |
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Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia |
ORPHA:1745 |
Basal Cell Nevus Syndrome 1 |
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Ovarian fibroma, Spina bifida, Hydrocephalus, Hamartomatous stomach polyps, Cleft palate, Ovarian... |
OMIM:109400 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
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Death in infancy, Cryptorchidism, Cleft palate, High palate, Protein-losing enteropathy, Micropen... |
OMIM:235255 |
Opitz Gbbb Syndrome |
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Bifid scrotum, Enlarged ovaries, Hypospadias, Shawl scrotum, Cryptorchidism, Tracheoesophageal fi... |
ORPHA:2745 |
Bardet-Biedl Syndrome 12 |
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Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Hydronephrosis, Hypogonadism, Vaginal atresia |
OMIM:615989 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Micropenis, Hypospadias, Hydronephrosis, Cleft palate |
OMIM:616897 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
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Cryptorchidism, Abnormal renal morphology, Hydronephrosis, High palate, Abnormality of the uterus... |
ORPHA:1655 |
Micro Syndrome |
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Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Abnormal localization of kidney, C... |
ORPHA:2510 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
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Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, Micropenis, Hydronephrosis,... |
OMIM:617798 |
Wolfram Syndrome 1 |
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Neurogenic bladder, Hydroureter, Dysphagia, Testicular atrophy, Hydronephrosis |
OMIM:222300 |
Denys-Drash Syndrome |
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Diffuse mesangial sclerosis, True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue... |
OMIM:194080 |
Mednik Syndrome |
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Death in infancy, Jejunal atresia, Death in childhood, Neonatal death, Volvulus, Microcolon |
OMIM:609313 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
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Hydrocephalus, High palate, Umbilical hernia, Ureteral triplication, Hydronephrosis |
OMIM:104350 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Abnormality of the gastrointestinal tract, Cryptorchidism, Gastrointestinal dysmotility, Cleft pa... |
ORPHA:453499 |
Intellectual Disability, Buenos-Aires Type |
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Umbilical hernia, High palate, Hydronephrosis |
ORPHA:3079 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
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Cryptorchidism, Micropenis, Hydronephrosis, Narrow palate |
ORPHA:364028 |
Chromosome 2P16.1-P15 Deletion Syndrome |
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High, narrow palate, Cryptorchidism, Hydronephrosis, High palate, Hypogonadism, Micropenis, Decre... |
OMIM:612513 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Renal dysplasia, Renal insufficiency, Septate vagina, Unilateral renal agenesis, Uterus didelphys... |
ORPHA:2237 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Renal dysplasia, Death in infancy, Ureteral duplication, Renal insufficiency, Long-chain dicarbox... |
OMIM:608836 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Pyloric stenosis, Cryptorchidism, Renal cy... |
ORPHA:261494 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
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Renal dysplasia, Abnormality of the urethra, Congenital pyloric atresia, Aplasia of the bladder, ... |
ORPHA:158684 |
Hallermann-Streiff Syndrome |
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Spina bifida, High, narrow palate, Cryptorchidism, Narrow palate, High palate |
OMIM:234100 |
Dubowitz Syndrome |
|
Anal stenosis, Hypospadias, Malabsorption, Cryptorchidism, Rectal prolapse, Submucous cleft hard ... |
ORPHA:235 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Recurrent urinary tract infections, Hypospadias, Testicular neoplasm, Spina bifida, Precocious pu... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Testicular neoplasm, Spina bifida, Precocious pu... |
ORPHA:363958 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Cleft palate, Furrowed tongue, Gastroesophageal reflux, High palate, Hydronephrosis,... |
OMIM:616449 |
Campomelic Dysplasia |
|
Hypospadias, Spina bifida, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Spinal dysra... |
OMIM:114290 |
Kury-Isidor Syndrome |
|
High palate, Hydronephrosis |
OMIM:619762 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Renal agenesis, Hypospadias, Spina bifida, Renal hypoplasia, Horseshoe kidney, Pelvic kidney |
ORPHA:508498 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Anal stenosis, Hydroureter, Absence of Stensen duc... |
OMIM:604292 |
Neu-Laxova Syndrome 1 |
|
Renal agenesis, Spina bifida, Bifid uterus, Cryptorchidism, Cleft palate, Stillbirth, Short umbil... |
OMIM:256520 |
Congenital Disorder Of Glycosylation, Type Iig |
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Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Cryptorchidism, Cleft palate, Glosso... |
OMIM:611209 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Aplasia of the vagina, Spina bifida |
OMIM:193500 |
Diphallia |
|
Abnormality of the gastrointestinal tract, Bifid scrotum, Ureteral duplication, Rectoperineal fis... |
ORPHA:227 |
Fibular Hemimelia |
|
Renal dysplasia, Spina bifida |
ORPHA:93323 |
Igg4-Related Aortitis |
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Intestinal obstruction, Hydronephrosis |
ORPHA:449400 |
Toluene Embryopathy |
|
Cryptorchidism, Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
Microphthalmia, Syndromic 9 |
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Renal malrotation, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Hypoplasia of the uterus, ... |
OMIM:601186 |
15Q Overgrowth Syndrome |
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Ureterovesical stenosis, High, narrow palate, Hydrocephalus, Abnormal renal morphology, Horseshoe... |
ORPHA:314585 |
Otopalatodigital Syndrome Type 2 |
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Encephalocele, Hypospadias, Myelomeningocele, Hydrocephalus, Cleft palate, Hydronephrosis, Glosso... |
ORPHA:90652 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Protruding tongue, High, narrow palate, Cryptorchidism, Death in childhood, Macroglo... |
OMIM:214100 |
Currarino Syndrome |
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Anal stenosis, Neurogenic bladder, Recurrent urinary tract infections, Urinary incontinence, Sept... |
OMIM:176450 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Hypospadias, Renal agenesis, Protruding tongue, Cryptorchidism, Macroglossia, Gastroesophageal re... |
OMIM:301040 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Renal dysplasia, Duplicated collecting system, Hydroureter, Absence of Stensen duct, Hypogonadotr... |
OMIM:129900 |
Au-Kline Syndrome |
|
Cryptorchidism, Lipomyelomeningocele, Chronic kidney disease, Dilatation of the renal pelvis, Cle... |
OMIM:616580 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Intestinal malrotation, Esophageal atresia, Dilatation of the renal pel... |
OMIM:265380 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
High palate, Hydronephrosis, Cleft palate |
ORPHA:488613 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... |
OMIM:614527 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Cousin Syndrome |
|
Hydrocephalus, Ambiguous genitalia, female, Cleft palate, Ambiguous genitalia, male, Hydranenceph... |
OMIM:260660 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Gastrointestinal dysmotility, Renal cyst, Gastroesophageal reflux, ... |
OMIM:270400 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Aganglionic megacolon, Anteriorly placed anus, Hydronephrosis, High palate, Bifid uvula |
ORPHA:247262 |
Holoprosencephaly |
|
Encephalocele, Hypoplasia of penis, Proteinuria, Cryptorchidism, Hydrocephalus, Spinal cord tumor... |
ORPHA:2162 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... |
OMIM:271520 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Pyloric stenosis, Rectal prolapse, Gastroesophageal reflux, Multiple bladder di... |
OMIM:613177 |
Rubinstein-Taybi Syndrome 1 |
|
Hypospadias, Spina bifida, Premature thelarche, Bilateral cryptorchidism, High, narrow palate, Cr... |
OMIM:180849 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Hydro... |
ORPHA:49041 |
Zaki Syndrome |
|
Renal agenesis, High palate, Hydronephrosis |
OMIM:619648 |
Aicardi Syndrome |
|
Spina bifida, Hiatus hernia, Precocious puberty, Cleft palate, Hepatoblastoma |
OMIM:304050 |
Apert Syndrome |
|
Pyloric stenosis, Esophageal atresia, Cryptorchidism, Hydrocephalus, Narrow palate, Cleft palate,... |
OMIM:101200 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Cryptorchidism, Malrotation of small bowel, Functional abnormality of the bladder, Nephrolithiasi... |
ORPHA:2953 |
Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the tongue, Glandular hypospadias, Cleft palate, Glossoptosis, High palate,... |
ORPHA:1358 |
Raine Syndrome |
|
Death in infancy, Hydroureter, Protruding tongue, Hydrocephalus, Cleft palate, High palate, Neona... |
OMIM:259775 |
Renal Agenesis |
|
Renal insufficiency, Absent vas deferens, Renal agenesis, Proteinuria, Unilateral renal agenesis,... |
ORPHA:411709 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Cryptorchidism, Hyposthenuria, Gastroesophageal reflux, Vesicoureteral reflux... |
OMIM:615926 |
Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Hydrocephalus, Pelvic kidney, Hydronephrosis |
OMIM:613001 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Anal stenosis, Hydroureter, Hypertrophy of the urinary bladder, Hydrocele testis, Unilateral rena... |
ORPHA:280633 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Gastroesophageal reflux, Hydronephro... |
ORPHA:85201 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Absence of renal corticomedullary differentiation, Hematemesis, Multiple sma... |
OMIM:263200 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... |
ORPHA:2322 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Rectal atresia, Perineal fistula, Rectovaginal fistula, Anal atresia |
ORPHA:3016 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, High palate, Hydronephrosis |
ORPHA:1297 |
2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis, Hypogonadism, High palate, Dysphagia, Decreased tes... |
ORPHA:261349 |
Lethal Congenital Contracture Syndrome 2 |
|
Hydronephrosis |
OMIM:607598 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Small scrotum, Cryptorchidism, Renal hypoplasia, Cleft palate, Renal cyst, Microphallus, Vesicour... |
OMIM:618454 |
1Q21.1 Microdeletion Syndrome |
|
Cryptorchidism, Hydrocephalus, High palate, Vesicoureteral reflux, Ankyloglossia, Hydronephrosis |
ORPHA:250989 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Spinal dysraphism |
OMIM:603546 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Cleft palate, Hydronephrosis, Bifid uvula, Renal dysplasia, Anal atresia |
OMIM:300968 |
Holoprosencephaly 3 |
|
Hydronephrosis, Holoprosencephaly, Bifid uvula, Cleft palate |
OMIM:142945 |
Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Pyloric stenosis, Cryptorchidism, Narrow palate, Cleft palate... |
OMIM:610443 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Hydrocephalus... |
OMIM:615287 |
Ulnar Hemimelia |
|
Spinal dysraphism |
ORPHA:93320 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Renal artery stenosis, Spina bifida |
OMIM:162200 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Hydronephrosis, Protruding tongue |
OMIM:619179 |
Fg Syndrome Type 1 |
|
Hypospadias, Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Cryptor... |
ORPHA:93932 |
Noonan Syndrome 4 |
|
Cryptorchidism, Ureteral duplication, Hydronephrosis |
OMIM:610733 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Aganglionic megacolon, Hypospadias, Nephroblastoma, Abnormality of the ureter, Neph... |
ORPHA:798 |
Knobloch Syndrome 1 |
|
Duplicated collecting system, Occipital encephalocele, Pyloric stenosis, Bifid ureter, Occipital ... |
OMIM:267750 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Hypospadias, Ovotestis, Hydrocephalus, Cleft palate, Anteriorly placed anus... |
OMIM:309801 |
8P Inverted Duplication/Deletion Syndrome |
|
Precocious puberty, High, narrow palate, Cryptorchidism, Abnormality of the urinary system, Micro... |
ORPHA:96092 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Cryptorchidism, Anteriorly placed anus, High palate, Vesicoureteral reflux, Micropenis, Pelvic ki... |
OMIM:618653 |
Autosomal Recessive Robinow Syndrome |
|
Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Hydronephros... |
ORPHA:1507 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Neurogenic bladder, Protruding tongue, Gastroesophageal reflux, Hydronephrosis |
OMIM:608779 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... |
OMIM:301068 |
Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Cleft palate, Stillbirth, Umbilical her... |
OMIM:304120 |
Cardiofaciocutaneous Syndrome |
|
Abnormality of the gastrointestinal tract, Cryptorchidism, Hydrocephalus, Submucous cleft hard pa... |
ORPHA:1340 |
Mosaic Trisomy 8 |
|
Cryptorchidism, Cleft palate, Hydronephrosis, High palate, Vesicoureteral reflux, Decreased testi... |
ORPHA:96061 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Aganglioni... |
ORPHA:818 |
Cartilage-Hair Hypoplasia |
|
Mucopolysacchariduria, Aganglionic megacolon, Spinal dysraphism, Malabsorption |
ORPHA:175 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Hydronephrosis |
ORPHA:568 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Gastroesophageal reflux, Micr... |
ORPHA:464311 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Hydronephrosis, Esophagitis |
ORPHA:541423 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Hydronephrosis, Macroglossia, Umbilical hernia, Large placenta |
ORPHA:254528 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Unilateral renal agenesis, Pyloric stenosis, Cryptorchidism, Renal cyst, Gastroesoph... |
ORPHA:464306 |
Kabuki Syndrome 1 |
|
Ureteropelvic junction obstruction, Anal stenosis, Crossed fused renal ectopia, Intestinal malrot... |
OMIM:147920 |
Trisomy 8P |
|
Cryptorchidism, Fetal pyelectasis, Malrotation of small bowel, Hydrocephalus, Cleft palate, Nephr... |
ORPHA:264450 |
Recombinant 8 Syndrome |
|
Small scrotum, Abnormality of the kidney, Cryptorchidism, Cleft palate, Hypoplastic male external... |
ORPHA:96167 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Ileal atresia, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogeni... |
OMIM:619351 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Tethered cord, Gastroesophageal reflux, Bifid uvula, Spina bifida |
OMIM:619480 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Gastroesophageal reflux, High palate, Renal ar... |
OMIM:617913 |
Fraser Syndrome 1 |
|
Encephalocele, Abnormal small intestine morphology, Hypospadias, Renal hypoplasia/aplasia, Crypto... |
OMIM:219000 |
Campomelic Dysplasia |
|
Ambiguous genitalia, Male pseudohermaphroditism, Hydronephrosis, Cleft palate |
ORPHA:140 |
White-Kernohan Syndrome |
|
Hydroureter, Horseshoe kidney, Anteriorly placed anus, Gastroesophageal reflux, Rectovaginal fist... |
OMIM:619426 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Tethered cord, Renal hypoplasia, Renal cyst, Dysphagia, Vesicoureteral refl... |
OMIM:618460 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
7Q11.23 Microduplication Syndrome |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Enuresis, Aplasia/Hypoplas... |
ORPHA:96121 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
X-Linked Dominant Chondrodysplasia Punctata |
|
High palate, Hydronephrosis |
ORPHA:35173 |
Cardiofaciocutaneous Syndrome 1 |
|
Hydrocephalus, Submucous cleft hard palate, Gastroesophageal reflux, High palate, Hydronephrosis |
OMIM:115150 |
Takenouchi-Kosaki Syndrome |
|
Cryptorchidism, Hypospadias, Hydronephrosis, Unilateral renal agenesis |
OMIM:616737 |
Distal Deletion 12Q |
|
Unilateral cryptorchidism, Ectopic kidney, High, narrow palate, Esophageal atresia, Pyloric steno... |
ORPHA:96149 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cryptorchidism, Hydronephrosis |
OMIM:620327 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Cryptorchidism, Nephrolithiasis, Hypoplastic labia majora, Macroglossia, Clitoral hypoplasia, Nep... |
OMIM:268310 |
Tarp Syndrome |
|
Cryptorchidism, Cleft palate, Horseshoe kidney, Glossoptosis, Abnormal duodenum morphology, Tongu... |
ORPHA:2886 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, High, narrow palate, Cleft palate, Furrowed tongue, Male urethral meatus stenosis, H... |
ORPHA:464738 |
Congenital Myopathy 17 |
|
Renal hypoplasia, Cleft palate, High palate, Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:618975 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Tethered cord, Intestinal malrotation, Urinary i... |
ORPHA:2729 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, High, narrow palate, Gastrointes... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, High, narrow palate, Gastrointes... |
ORPHA:352665 |
Simpson-Golabi-Behmel Syndrome |
|
Death in infancy, Hypoplasia of penis, Ureteral duplication, Hypospadias, Multicystic kidney dysp... |
ORPHA:373 |
Robinow Syndrome |
|
Multicystic kidney dysplasia, Small scrotum, External genital hypoplasia, Webbed penis, Cryptorch... |
ORPHA:97360 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Villous atrophy, Ureteral hypoplasia, Hydronephrosis, Bicornuate uteru... |
ORPHA:79328 |
Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Nephrotic range proteinuria, Renal interstitial immunoglobulin ... |
ORPHA:449395 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Renal insufficien... |
ORPHA:90291 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Recurrent urinary tract infections, Cleft palate, Recurrent infection of the gastr... |
OMIM:251260 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Bifid uterus, Anencephaly, Cleft palate, Stillbirth, Severe hydrocephalus, Abnormal ... |
OMIM:236680 |
Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Small intest... |
ORPHA:100078 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Phimosis, Esophageal stricture, Neoplasm of the urethra, Inflammation of the ... |
ORPHA:2908 |
Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:2484 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Intestinal malrotation, Hiatus hernia, Cryptorchidism, Myelomeningocele, Hy... |
OMIM:305600 |
Peters Plus Syndrome |
|
Intestinal fistula, Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypopl... |
ORPHA:709 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, High palate, Am... |
ORPHA:1772 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, High, narrow palate, Cleft palate, Horseshoe kidney, Hydronephrosis |
OMIM:272950 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Cleft palate, Micropenis, Hydronephrosis |
ORPHA:163979 |
Genitopatellar Syndrome |
|
Anal stenosis, Small scrotum, Clitoral hypertrophy, Enlarged labia minora, Multicystic kidney dys... |
OMIM:606170 |
3Mc Syndrome 1 |
|
Spina bifida occulta, Hydronephrosis, Cleft palate |
OMIM:257920 |
Coffin-Siris Syndrome 1 |
|
Hydroureter, Duodenal ulcer, Intestinal malrotation, Hypospadias, Ectopic kidney, Cryptorchidism,... |
OMIM:135900 |
Gabriele-De Vries Syndrome |
|
Cryptorchidism, Ureteropelvic junction obstruction, High palate, Hydronephrosis |
OMIM:617557 |
Charge Syndrome |
|
Bifid scrotum, Hypogonadotropic hypogonadism, Abnormal soft palate morphology, Cryptorchidism, Aq... |
ORPHA:138 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Umbilical hernia, Stillbirth, Hydronephrosis, Unilateral renal agenesis |
OMIM:308050 |
Frontometaphyseal Dysplasia |
|
Ureteral obstruction, Urethral stenosis, Cleft palate, Hydronephrosis, Spina bifida occulta, Bifi... |
ORPHA:1826 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Hypospadias, Ureteral stenosis, Hydroureter, Hypoplastic labia minora, Hypoplastic... |
OMIM:269150 |
Congenital Disorder Of Glycosylation, Type It |
|
Hydronephrosis, Bifid uvula, Cleft palate |
OMIM:614921 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, High pa... |
DECIPHER:81 |
Frontometaphyseal Dysplasia 1 |
|
Hydroureter, High palate, Hydronephrosis, Cleft palate |
OMIM:305620 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Esophageal atresia, Cryptorchidism, Uterus didelphys... |
ORPHA:93271 |
46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito... |
OMIM:400045 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Intestinal malrotation, Hiatus hernia, Cryptorchidism, Cleft palate, Nephrotic syndrome, High pal... |
OMIM:601776 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Celiac disease, Cryptorchidism, Precocious puberty, Dilatation of th... |
ORPHA:2044 |
Charge Syndrome |
|
Anal stenosis, Hypogonadotropic hypogonadism, External genital hypoplasia, Renal agenesis, Esopha... |
OMIM:214800 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent urinary tract infections, Perianal abscess, Cryptorchidism, Urachus fistula, Cleft pala... |
OMIM:612541 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Pyloric stenosis, Cryptorchidism, Re... |
ORPHA:1606 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Intestinal obstruction, Ureteral stenosis, Renal ins... |
ORPHA:900 |
Tetrasomy 9P |
|
Renal dysplasia, Recurrent urinary tract infections, Cryptorchidism, Hydrocephalus, Abnormal spin... |
ORPHA:3310 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Hypospadias, Epispadias, Male pseudohermaphroditism, Hydrocephalus, Ab... |
ORPHA:2556 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Tethered cord, Hypospadias, Urinary incontinence, Renal agenesis, Cryptorchid... |
OMIM:619522 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Hydronephrosis, Dysuria, Dysphagia |
ORPHA:101000 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Hypospadias, Intestinal malrotation, Cryptorchidism, Nephroli... |
ORPHA:353281 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hydronephrosis |
OMIM:617093 |
Eec Syndrome |
|
Hypospadias, Renal hypoplasia/aplasia, Xerostomia, Cleft palate, Urethral atresia, Vesicoureteral... |
ORPHA:1896 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Hypospadias, Renal agenesis, Ovotestis, Cleft palate, Sex reversal |
OMIM:611812 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:2995 |
Floating-Harbor Syndrome |
|
Hypospadias, Celiac disease, Cryptorchidism, Glandular hypospadias, Nephrocalcinosis, Hydronephro... |
OMIM:136140 |
Craniofacioskeletal Syndrome |
|
Cryptorchidism, Hypospadias, Hydronephrosis, Cleft palate |
OMIM:300712 |
C Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Abnorma... |
ORPHA:1308 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Hydronephrosis |
OMIM:302960 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Cleft palate, Hydrocele testis, Umbilical hernia, Ureteropelvic jun... |
OMIM:280000 |
Occipital Horn Syndrome |
|
Ureteral obstruction, Hiatus hernia, Bladder diverticulum, High palate, Hydronephrosis |
OMIM:304150 |
Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hamartoma of tongue, Cleft palate... |
ORPHA:2750 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Neurogenic bladder, Cleft palate, High palate, Dysphagia, Ureteropelvic junction obstruction, Hyd... |
OMIM:616973 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Narrow palate, Cleft palate, Sirenomelia, Neph... |
ORPHA:79500 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Cryptorchidism, Narrow palate, Hypoplastic labia majora, Macroglossia, Clitoral hypoplasia, High ... |
OMIM:180700 |
Cockayne Syndrome Type 3 |
|
Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Renal hypoplasia... |
ORPHA:90324 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Hypospadias, Intestinal malrotation, Cryptorchidism, Hydrocepha... |
OMIM:312870 |
Melnick-Needles Syndrome |
|
Ureteral stenosis, Stillbirth, Hydronephrosis, Cleft palate |
OMIM:309350 |
Erdheim-Chester Disease |
|
Hydronephrosis, Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria |
ORPHA:35687 |
Cerebellar-Facial-Dental Syndrome |
|
Cryptorchidism, Ureteropelvic junction obstruction, Hydronephrosis |
ORPHA:444072 |
Elsahy-Waters Syndrome |
|
Bifid scrotum, Anal stenosis, Hypospadias, Bilateral cryptorchidism, Anteriorly placed anus, High... |
OMIM:211380 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous genitalia, Decreased testicular si... |
OMIM:610644 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Miscarriage, External genital hypoplasia, Cryptorchidism, Large placenta, Spinal dysraphism, Macr... |
ORPHA:96334 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis, Short umbilical cord, Absent uvula |
OMIM:600383 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Moderate albuminuria, Hydronephrosis |
OMIM:619269 |
Al-Gazali Syndrome |
|
Hydronephrosis |
OMIM:609465 |
Arboleda-Tham Syndrome |
|
Recurrent urinary tract infections, Intestinal malrotation, Bilateral cryptorchidism, Cleft palat... |
OMIM:616268 |
Monosomy 22Q13.3 |
|
Renal dysplasia, Gastroesophageal reflux, Vesicoureteral reflux, Umbilical hernia, Recurrent pyel... |
ORPHA:48652 |
Meconium Ileus |
|
Microcolon, Meconium ileus |
OMIM:614665 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hypogonadism, Ileus, Aganglionic megacolon, Microcolon |
ORPHA:163746 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent urinary tract infections, Hypospadias, Intestinal malrotation, Abnormality of the kidne... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent urinary tract infections, Hypospadias, Intestinal malrotation, Abnormality of the kidne... |
ORPHA:353277 |
Osteopetrosis With Renal Tubular Acidosis |
|
Proximal renal tubular acidosis, Nephrolithiasis, Renal tubular acidosis, High palate, Distal ren... |
ORPHA:2785 |
Johanson-Blizzard Syndrome |
|
Colonic diverticula, Clitoral hypertrophy, Hypospadias, Septate vagina, Malabsorption, Urethrovag... |
OMIM:243800 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Dysuria, Oral-pharyngeal dysphagia, Intestinal perforation, Moderate a... |
ORPHA:95455 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Ureteral duplication, Hypospadias, Cryptorchidism, Hydrocephalus, Renal... |
OMIM:261540 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Intestinal malrotation, Glycosuria, Colon perforation, Umbilical hernia, Mi... |
OMIM:600001 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Hydronephrosis, Unilateral renal agenesis |
ORPHA:487796 |
Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, High, narrow palate, Cleft palat... |
OMIM:188400 |
Gabriele-De Vries Syndrome |
|
Oral-pharyngeal dysphagia, Cryptorchidism, Esophageal atresia, High palate, Ureteropelvic junctio... |
ORPHA:506358 |
Chime Syndrome |
|
Hydronephrosis, Abnormality of the kidney, Cleft palate |
ORPHA:3474 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Cryptorchidism, S... |
ORPHA:2636 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pyloric stenosis, Cryptorchidism, Cleft palate, Micropenis, Hydronephrosis |
ORPHA:83617 |
Lacrimoauriculodentodigital Syndrome |
|
Cryptorchidism, Xerostomia, Renal hypoplasia, Hydronephrosis, Bicornuate uterus, Dysphagia, Vesic... |
ORPHA:2363 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Renal insufficiency, Aqueductal stenosis, Hydrocephalus, Esophageal varix, Dilatation... |
OMIM:619534 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Recurrent urinary tract infections, Hypospadias, Hydrocele testis, Aminoacidur... |
OMIM:619991 |
Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Aganglionic megacolon, Hypospadias, Abnormality of the... |
ORPHA:821 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Abnormal external genitalia, Hypospadias, Ectopic kidney, Cryptorchidism, Hydrocephalus, Submucou... |
OMIM:607872 |
Viss Syndrome |
|
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... |
OMIM:619472 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Renal hypoplasia/aplasia, Hydrocephalus, Abnormal renal morphology, High palate, Hydronephrosis |
ORPHA:363700 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hydroureter, Aganglionic megacolon, Abnormality of the kidney, Abnormality of the upper urinary t... |
ORPHA:2273 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Urinary incontinence, Cleft hard palate, Gastrointestinal dysmotility, Vesicourete... |
ORPHA:2152 |
Restrictive Dermopathy |
|
Ureteral duplication, Hypospadias, Large placenta, Submucous cleft hard palate, Short umbilical c... |
ORPHA:1662 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Small scrotum, Bifid uvula, High palate, Umbilical hernia, Hydronephrosis |
OMIM:620330 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Abnormal large intestine morphology, Narrow palate, Hamartomatous polyposis... |
ORPHA:109 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Urinary incontinence, Cleft hard palate, Vesicoureteral reflux, Webbed penis, Micr... |
ORPHA:261537 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent urinary tract infections, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, H... |
ORPHA:3455 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Precocious puberty, Cryptorchidism, Vesicoureteral reflux, Nephrolithiasis, Gastroesophageal refl... |
ORPHA:438213 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Urinary incontinence, Cleft hard palate, Vesicoureteral reflux, Webbed penis, Micr... |
ORPHA:261552 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Renal dysplasia, Cleft palate, High palate, Hydronephrosis, Anal atresia |
ORPHA:480880 |
Osteogenesis Imperfecta, Type Vii |
|
Death in infancy, Hydronephrosis |
OMIM:610682 |
Cardiac Valvular Dysplasia 1 |
|
Urethral diverticulum, Hydroureter, Hydronephrosis |
OMIM:212093 |